Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Srividya Sreekantam"'
Autor:
Berna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion, Efstathia Chronopoulou, Lee C. Claridge, Anne Daly, Catherine Davies, James Davison, Anil Dhawan, Stephanie Grunewald, Girish L. Gupte, Nigel Heaton, Hugh Lemonde, Pat McKiernan, Philippa Mills, Andrew A.M. Morris, Helen Mundy, Germaine Pierre, Sanjay Rajwal, Siyamini Sivananthan, Srividya Sreekantam, Karolina M. Stepien, Roshni Vara, Mildrid Yeo, Paul Gissen
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101020- (2023)
Ornithine transcarbamylase deficiency (OTCD) is an X-linked defect of ureagenesis and the most common urea cycle disorder. Patients present with hyperammonemia causing neurological symptoms, which can lead to coma and death. Liver transplantation (LT
Externí odkaz:
https://doaj.org/article/4b378179f00043a097ba2e977f075d5f
Autor:
Srividya Sreekantam, Laura Smith, Catherine Stewart, Shauna Kearney, Sarah Lawson, Julian Raiman, Suresh Vijay, Saikat Santra
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100881- (2022)
Hunter syndrome is a neurodegenerative lysosomal storage disorder with limited treatment options to halt the progressive neurocognitive decline. Whilst Intravenous enzyme replacement therapy (ERT) does not cross the blood brain barrier; Intrathecal E
Externí odkaz:
https://doaj.org/article/9e1e1d9d93894a859ec864c1ba93296c
Autor:
Berna Seker Yilmaz, Julien Baruteau, Nur Arslan, Halil Ibrahim Aydin, Magalie Barth, Ayse Ergul Bozaci, Anais Brassier, Ebru Canda, Aline Cano, Efstathia Chronopoulou, Grainne M. Connolly, Lena Damaj, Charlotte Dawson, Dries Dobbelaere, Claire Douillard, Fatma Tuba Eminoglu, Sahin Erdol, Melike Ersoy, Sherry Fang, François Feillet, Gulden Gokcay, Emine Goksoy, Magali Gorce, Asli Inci, Banu Kadioglu, Fatih Kardas, Cigdem Seher Kasapkara, Gonca Kilic Yildirim, Deniz Kor, Melis Kose, Cecilia Marelli, Helen Mundy, Siobhan O’Sullivan, Burcu Ozturk Hismi, Radha Ramachandran, Agathe Roubertie, Mehtap Sanlilar, Manuel Schiff, Srividya Sreekantam, Karolina M. Stepien, Ozlem Uzun Unal, Yilmaz Yildiz, Tanyel Zubarioglu, Paul Gissen
Publikováno v:
Life, Vol 12, Iss 11, p 1721 (2022)
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and
Externí odkaz:
https://doaj.org/article/800ce92a6de9427e948d1938b211e04c
Autor:
Srividya Sreekantam, Hina Rizvi, Rachel Brown, Saikat Santra, Julian Raiman, Suresh Vijay, Patrick J. Mckiernan, Girish L. Gupte
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 22-24 (2020)
Abstract Our subject presented at 11 months of age, following a varicella zoster infection, with acute on chronic liver disease and was found to have raised serum chitotriosidase. White cell enzyme analysis for Gaucher, Niemann Pick A, B and lysosoma
Externí odkaz:
https://doaj.org/article/40ef5ed4372346a48346a91859002cc0
Autor:
Srividya Sreekantam
Publikováno v:
Genetic Syndromes ISBN: 9783319668161
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3dff191f651ba72badc80b461b876927
https://doi.org/10.1007/978-3-319-66816-1_1732-1
https://doi.org/10.1007/978-3-319-66816-1_1732-1
Autor:
Girish Gupte, Patrick J. McKiernan, Julian Raiman, Rachel M. Brown, Srividya Sreekantam, Saikat Santra, Suresh Vijay, Hina Rizvi
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 22-24 (2020)
JIMD Reports
JIMD Reports
Our subject presented at 11 months of age, following a varicella zoster infection, with acute on chronic liver disease and was found to have raised serum chitotriosidase. White cell enzyme analysis for Gaucher, Niemann Pick A, B and lysosomal acid li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2395e7c245ab6406529558396274ab22
https://doi.org/10.1002/jmd2.12123
https://doi.org/10.1002/jmd2.12123
Autor:
Julian Raiman, Mary Anne Preece, Saikat Santra, Tim Hutchin, Suresh Vijay, G Shortland, Srividya Sreekantam, Adam Gerrard
Publikováno v:
British inherited metabolic disease group.
Aim To describe the clinical course of children in whom the diagnosis of an underlying metabolic disorder was delayed due to a failure of obtaining urine for organic acid analysis at the time of initial presentation with hypoglycaemia and/or lactic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ddbc84123433162593621b2dbee9c22
https://doi.org/10.1136/archdischild-2020-rcpch.405
https://doi.org/10.1136/archdischild-2020-rcpch.405
Publikováno v:
Archives of disease in childhood - Education & practice edition. 102:28-36
Controlled fasts can play a valuable role in the diagnosis and management of hypoglycaemia in paediatric clinical practice, but are no substitute for the collecting of appropriate critical samples at the time of hypoglycaemia for metabolic and endocr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d87b9ca1ecbff67c4f17f843f8386d98
https://doi.org/10.1136/archdischild-2015-308702
https://doi.org/10.1136/archdischild-2015-308702
Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency
Autor:
Srividya Sreekantam, Saikat Santra, J. Orr, Khalid Sharif, Patrick J. McKiernan, I. Nicklaus-Wollenteit, Suresh Vijay
Publikováno v:
Pediatric Transplantation. 20:851-854
Late-onset LAL deficiency, previously referred to as cholesteryl ester storage disorder, is a rare lysosomal storage disorder characterized by accumulation of cholesteryl esters. It has a heterogeneous clinical phenotype including abdominal pain, poo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b68e932f50d8b25b3a3e7612cdc3b4e
https://doi.org/10.1111/petr.12748
https://doi.org/10.1111/petr.12748
Autor:
Anne Daly, Steve Kitchen, Alex Pinto, Srividya Sreekantam, Anna Pigott, Ozlem Yilmaz, Saikat Santra, Kathryn Frost, Anita MacDonald, Adam Gerrard, Rachel Hoban
Publikováno v:
Nutrición Hospitalaria v.35 n.1 2018
SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
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SciELO España. Revistas Científicas Españolas de Ciencias de la Salud
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Introduction: 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. Few cases are reported in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75653e8f246330e4274e4e24723b632a
https://doi.org/10.20960/nh.1329
https://doi.org/10.20960/nh.1329